Session Details

[OE3]Oral English Session 3 Clinical Genetics / Rare Disease

Thu. Dec 15, 2022 3:30 PM - 4:20 PM JST
Thu. Dec 15, 2022 6:30 AM - 7:20 AM UTC
Room 7
Chairs:Norio Sakai (Child Healthcare and Genetic Science Laboratory, Division of Health Sciences, Osaka University Graduate School of Medicine), Yukiko Kuroda (Division of Medical Genetics, Kanagawa Children's Medical Center)

[OE3-1]A patient with argininosuccinic aciduria and Silver-Russell syndrome due to maternal uniparental disomy chromosome 7

Atsushi Hattori1, Torayuki Okuyama2,3, Tetsumin So2, Motomichi Kosuga2, Keiko Ichimoto4, Kei Murayama4, Masayo Kagami1, Maki Fukami1, Yasuyuki Fukuhara2 (1.Department of Molecular Endocrinology, National Research Institute for Child Health and Development, 2.Division of Medical Genetics, National Center for Child Health and Development, 3.Department of Pediatrics and Clinical Genomics, Saitama Medical University, 4.Center for Medical Genetics, Department of Metabolism, Chiba Children's Hospital)

[OE3-2]Diagnosing uncertainty: suspected VLCAD deficiency in an infant with two ACADVL variants of uncertain significance

Vlad Tocan, Taro Shimamoto, Yuichi Mushimoto, Nozomi Abe, Kanako Kojima-Ishii, Shouichi Ohga (Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan)

[OE3-3]Identification of Disease Gene for Camurati-Engelmann Disease Type II

Zheng Wang1, Gen Nishimura1, Noriko Miyake2, Mitsuhiro Kometani3, Koh-ichiro Yoshiura4, Takeshi Imamura5, Hirofumi Ohashi6, Junya Toguchida7, Naomichi Matsumoto2, Shiro Ikegawa1 (1.IMS, RIKEN, Tokyo, Japan, 2.Yokohama City University Graduate School of Medicine, Yokohama, Kanagawa, Japan, 3.Kanazawa University Graduate School of Medicine, Kanazawa, Ishikawa, Japan, 4.Nagasaki University Graduate School of Biomedical Sciences, , Nagasaki, Japan, 5.Ehime University Graduate School of Medicine, To-on, Ehime, Japan, 6.Saitama Prefecture Children's Medical Center, Saitama, Sanitama, Japan, 7.Kyoto University, Kyoto, Kyoto, Japan)

[OE3-4]De novo non-synonymous CTR9 variants are associated with intellectual disability, motor delay, and macrocephaly

Hisato Suzuki1, Kana Aoki2, Kenji Kurosawa3, Kazuo Imagawa4, Tatsuyuki Ohto4, Mamiko Yamada1, Toshiki Takenouchi5, Kenjiro Kosaki1, Tohru Ishitani2 (1.Center for Medical Genetics, Keio University School of Medicine, Tokyo, Japan, 2.Department of Homeostatic Regulation, Division of Cellular and Molecular Biology, Research Institute for Microbial Diseases, Osaka University, Osaka, Japan, 3.Division of Medical Genetics, Kanagawa Children's Medical Center, Kanagawa, Japan, 4.Department of Child Health, Faculty of Medicine, University of Tsukuba, Ibaraki, Japan, 5.Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan)

[OE3-5]A novel de novo variant in KCNH5 in a patient with refractory epileptic encephalopathy

Akihiko Mitsutake1,2, Takashi Matsukawa1, Hiroyuki Ishiura1, Jun Mitsui3, Hiroaki Harada4, Keishi Fujio4, Jun Fujishiro5, Harushi Mori6, Shinichi Morishita7, Shoji Tsuji8, Tatsushi Toda1 (1.Department of Neurology, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan, 2.Department of Neurology, International University of Health and Welfare Mita Hospital, Tokyo, Japan, 3.Department of Molecular Neurology, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan, 4.Department of Rheumatology and Allergy, The University of Tokyo Hospital, Tokyo, Japan, 5.Department of Pediatric Surgery, The University of Tokyo Hospital, Tokyo, Japan, 6.Department of Radiology, School of Medicine, Jichi Medical University, Tochigi, Japan, 7.Department of Computational Biology and Medical Sciences, Graduate School of Frontier Sciences, The University of Tokyo, Chiba, Japan, 8.Institute of Medical Genomics, International University of Health and Welfare, Narita, Japan)